Search results for UniProt:Q9H1C4

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Identifier: R-HSA-1679064
Species: Homo sapiens
Compartment: Golgi membrane
Primary external reference: UniProt: UNC93B1: UniProt:Q9H1C4
Identifier: R-HSA-1678930
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: UNC93B1: UniProt:Q9H1C4
Identifier: R-HSA-9628866
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: UNC93B1: UniProt:Q9H1C4
P345fs* corresponds to 1034del4 in the coding region of UNC93B1 gene
Identifier: R-HSA-9628869
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: UNC93B1: UniProt:Q9H1C4
Substitution 781G>A in the coding sequence affects the last nucleotide of exon 6 of UNC93B1 gene causing the exon 6 to be spliced out. This causes a frameshift in the resulting mis-spliced transcript, starting with the first codon of exon 7 (amino acid position 230) that is erroneously spliced to exon 5, so that a premature stop codon is encountered in exon 9.
Species: Homo sapiens
Protein unc-93 homolog B1.
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